Objective:

Identify disorders and

diseases that result from
the malfunction of the
cell during the cell cycle
Preactivity:
>Group yourselves in a group of three
members, then discuss among yourselves
at least two conditions or disorders you
observed that are out of the ordinary to
some people.
>Identify or describe the characteristics of
the said disorder.
> Present your output to the class
Introduction:
>Police and military units had conducted various checkpoints
set up to enforced the government's ongoing efforts to contain
the spread of the coronavirus disease (Covid-19).
>You can get COVID-19 during your travels. You may feel
well and not have any symptoms, but you can still spread
COVID-19 to others. You and your travel companions
(including children) may spread COVID-19 to other people
including your family, friends, and community for 14 days
after you were exposed to the virus.
>Our cells have their own mechanisms in regulating cell
cycle, they have their own checkpoints to monitor and
regulate cell cycle.
Cell cycle checkpoints:
A checkpoint is a stage in the
eukaryotic cell cycle at which
the cell examines internal and
external cues and "decides"
whether or not to move forward
with division.
There are a number of checkpoints,
but the three most important ones
are:
• The G1 checkpoint, at the G1/S
transition.
• The G2 checkpoint, at G2/M
transition.
• The spindle checkpoint, at
transition from metaphase to
anaphase
The G1 is the main decision point for a cell:
> the primary point at which it must choose
whether or not to divide.
> Once the cell passes the G1 checkpoint and
enters S phase, it becomes irreversibly
committed to division. That is, barring
unexpected problems, such as DNA damage or
replication errors.
> a cell that passes the G1 checkpoint will
continue the rest of the way through the cell
cycle and produce two daughter cells
>At the G1 checkpoint, a cell checks whether
internal and external conditions are right for
division. Here are some of the factors a cell
might assess:
• Size. Is the cell large enough to divide?
• Nutrients. Does the cell have enough energy
reserves or available nutrients to divide?
• Molecular signals. Is the cell receiving positive
cues (such as growth factors) from neighbors?
• DNA integrity. Is any of the DNA damaged?
>If a cell doesn’t get the go-
ahead cues it needs at the G1
checkpoint, it may leave the cell
cycle and enter a resting state
called G0 phase.
>Some cells stay permanently in
G0, while others resume
dividing if conditions improve
To make sure that cell division goes
smoothly (produces healthy daughter cells
with complete, undamaged DNA), the cell
has an additional checkpoint before M
phase, called the
G2 checkpoint. At this stage, the cell will
check:
• DNA integrity. Is any of the DNA
damaged?
• DNA replication. Was the DNA
>If errors or damage are detected, the cell will
pause at the G2 checkpoint to allow for repairs.
>If the checkpoint mechanisms detect problems
with the DNA, the cell cycle is halted, and the
cell attempts to either complete DNA
replication or repair the damaged DNA.
>If the damage is irreparable, the cell may
undergo apoptosis, or programmed cell death.
This self-destruction mechanism ensures that
damaged DNA is not passed on to daughter cells
and is important in preventing cancer.
The M checkpoint is also known as the
spindle checkpoint:
> the cell examines whether all the sister
chromatids are correctly attached to the
spindle microtubules.
>Because the separation of the sister
chromatids during anaphase is an
irreversible step, the cycle will not proceed
until all the chromosomes are firmly
attached to at least two spindle fibers from
opposite poles of the cell.
Cancer comprises many different diseases
caused by a common mechanism:
uncontrolled cell growth.
>Despite the redundancy and overlapping
levels of cell cycle control, errors do occur.
> One of the critical processes monitored by
the cell cycle checkpoint surveillance
mechanism is the proper replication of DNA
during the S phase.
>Even when all of the cell cycle controls are
fully functional, a small percentage of
replication errors (mutations) will be
passed on to the daughter cells.
> If changes to the DNA nucleotide
sequence occur within a coding portion of a
gene and are not corrected, a gene
mutation results.
>All cancers start when a gene mutation
gives rise to a faulty protein that plays a
Common Genetic Disorders
and Diseases
• Down Syndrome
>Typically, the nucleus of an individual cell contains 23
pairs of chromosomes, but Down syndrome occurs
when the 21st chromosome is copied an extra time in
all or some cells.
>Nurse practitioners and physicians commonly perform
detailed prenatal screening tests, like blood tests, that
detect quantities of chromosomal material and other
substances in a mother’s blood. This type of testing can
determine, with high accuracy, whether or not a child
will be born with Down syndrome.
>When a person is diagnosed with
Down syndrome, they are likely to
exhibit varying levels of mild to severe
cognitive delays.
>Other markers of Down syndrome
include a higher disposition for
congenital heart defects, low muscle
tone, smaller physical stature, and an
upward slant to the eyes.
• Thalassemia
Thalassemia is a family of hereditary
genetic conditions that limits the amount of
hemoglobin an individual can naturally
produce. This condition inhibits oxygen
flow throughout the body. There is a 25
percent chance that children who inherit
the Thalassemia gene from both parents
will be born with Thalassemia.
>People who are especially likely to be carriers
of the faulty gene that is responsible for
Thalassemia include those of Southeast Asian,
Indian, Chinese, Middle Eastern,
Mediterranean, and Northern African descent.
>With any form of Thalassemia usually comes
severe anemia, which may require specialized
care such as regular blood transfusions and
chelation therapy ( removal of heavy metals such
as lead and iron from the bloodstream by binding
to them and getting excreted through urine).
Cystic Fibrosis
Cystic Fibrosis is a chronic, genetic
condition that causes patients to produce
thick and sticky mucus, inhibiting their
respiratory, digestive, and reproductive
systems. Like Thalassemia, the disease is
commonly inherited at a 25 percent rate
when both parents have the Cystic
Fibrosis gene.
• Tay-Sachs disease
The condition is caused by a chromosomal defect
similar to that of Down syndrome. Unlike Down
syndrome, however, Tay-Sachs results from a
defect found in chromosome #15, and the
disorder is irreversibly fatal when found in
children.Tay-Sachs disease gradually destroys
the nervous system, frequently resulting in death
by age five. Adults can also be diagnosed with
Late-Onset Tay-Sachs disease, which causes a
manageable level of diminished cognitive ability.
While detecting Tay-Sachs can be
accomplished by using enzyme assay
methods or DNA studies, an option does
exist to prevent the risk entirely. Assisted
reproductive therapy techniques can be
conducted that test in-vitro embryos for
Tay-Sachs before implanting them into the
mother. This can allow only healthy
embryos to be selected
Sickle Cell Anemia Sickle Cell Disease
causes red blood cells to change from
their usual donut shape to a sickle
shape. This causes the cells to clump
together and become caught in blood
vessels, triggering severe pain and
serious complications such as
infections, organ damage, and acute
respiratory syndrome
Application:
If you are to give a piece of advice to
someone who has a disease like the things
we had discussed, what would you tell him
or her?
Write your answer in a ½ sheet of paper. 20
points.